Canonical Allele Identifier: CA355381465

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854418A>C (hg19) ; chr3:g.184136630A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136630A>C , CM000665.2:g.184136630A>C	GRCh38
NC_000003.11:g.183854418A>C , CM000665.1:g.183854418A>C	GRCh37
NC_000003.10:g.185337112A>C	NCBI36
NG_015826.1:g.6609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.214A>C	ENSP00000414775.1:p.Asn72His
ENST00000465218.3:n.237A>C
ENST00000468748.7:n.197A>C
ENST00000471832.2:c.*208A>C	ENSP00000497786.1:n.*208A>C
ENST00000491008.6:n.79A>C
ENST00000492226.2:n.211A>C
ENST00000647636.1:c.214A>C	ENSP00000497505.1:p.Asn72His
ENST00000647909.1:c.214A>C	ENSP00000498164.1:p.Asn72His
ENST00000648256.1:c.163A>C	ENSP00000497356.1:p.Asn55His
ENST00000648314.1:c.214A>C	ENSP00000496920.1:p.Asn72His
ENST00000648599.1:c.214A>C	ENSP00000497159.1:p.Asn72His
ENST00000648630.1:c.208A>C	ENSP00000497887.1:p.Asn70His
ENST00000648682.1:c.214A>C	ENSP00000498185.1:p.Asn72His
ENST00000648882.1:c.*40A>C	ENSP00000497603.1:n.*40A>C
ENST00000648890.1:c.214A>C	ENSP00000497503.1:p.Asn72His
ENST00000648915.2:c.214A>C MANE Select	ENSP00000497160.1:p.Asn72His
ENST00000649688.1:c.214A>C	ENSP00000497097.1:p.Asn72His
ENST00000649814.1:n.263A>C
ENST00000650244.1:c.359A>C	ENSP00000497227.1:n.359A>C
ENST00000650270.1:c.81A>C
ENST00000273783.7:c.214A>C	ENSP00000273783.3:p.Asn72His
ENST00000432569.1:c.214A>C	ENSP00000414775.1:p.Asn72His
ENST00000432982.5:c.200A>C
ENST00000444495.1:c.214A>C	ENSP00000409142.1:p.Asn72His
ENST00000471832.1:n.145A>C
ENST00000481054.5:n.215A>C
ENST00000491144.5:n.562A>C
ENST00000498831.1:n.70A>C
NM_003907.2:c.214A>C	NP_003898.2:p.Asn72His
XR_924208.1:n.1165A>C
NM_003907.3:c.214A>C MANE Select	NP_003898.2:p.Asn72His
XM_011513266.3:c.-688A>C	XP_011511568.1:n.-688A>C
XR_001740352.2:n.577A>C
XR_001740353.2:n.577A>C
XR_924208.2:n.577A>C